Occipital pachygyria and polymicrogyria

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Synonyms: Occipital MCD | Occipital malformations of cortical development

A rare genetic cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri associated with an excessive number of small irregular gyri with increased cortical thickness located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic absence atypical absence vision loss myoclonic-atonic generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Occipital pachygyria and polymicrogyria?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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